Variant report

Variant	rs506028
Chromosome Location	chr11:66468469-66468470
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:66468215-66468603	K562	blood:	n/a	n/a
2	POLR2A	chr11:66468018-66468712	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66459817..66461573-chr11:66466529..66468513,2	K562	blood:
2	chr11:66466709..66469416-chr11:66599980..66602428,2	MCF-7	breast:
3	chr11:66467061..66471103-chr11:66486078..66489468,3	MCF-7	breast:
4	chr11:66468352..66470994-chr11:66506847..66509185,2	K562	blood:
5	chr11:66467722..66469493-chr11:66475965..66478648,2	K562	blood:
6	chr11:66466386..66469283-chr11:66602977..66604850,2	MCF-7	breast:
7	chr11:66444416..66447131-chr11:66467502..66470141,2	K562	blood:
8	chr11:66468344..66470006-chr11:66474502..66476222,2	K562	blood:
9	chr11:66468258..66468846-chr11:66601320..66601937,2	K562	blood:
10	chr11:66459556..66461702-chr11:66466375..66468900,2	MCF-7	breast:
11	chr11:66466584..66468800-chr11:66475005..66476918,2	MCF-7	breast:
12	chr11:66467985..66470994-chr11:66506780..66509185,3	K562	blood:

No data

Variant related genes	Relation type
SPTBN2	TF binding region
ENSG00000173914	Chromatin interaction
ENSG00000173898	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10501397	0.89[JPT][hapmap]
rs10896125	0.89[JPT][hapmap]
rs11227499	0.89[JPT][hapmap]
rs11227501	0.89[JPT][hapmap]
rs11227510	0.89[JPT][hapmap]
rs11227511	0.89[JPT][hapmap]
rs11227512	0.88[JPT][hapmap]
rs11227515	0.89[JPT][hapmap]
rs11227527	0.89[JPT][hapmap]
rs11227534	0.94[JPT][hapmap]
rs11822028	0.89[JPT][hapmap]
rs2075792	0.94[JPT][hapmap]
rs2298806	0.89[JPT][hapmap]
rs2305532	0.89[JPT][hapmap]
rs2305533	0.89[JPT][hapmap]
rs2305535	0.89[JPT][hapmap]
rs3741360	0.89[JPT][hapmap]
rs3819247	0.89[JPT][hapmap]
rs3825065	0.89[JPT][hapmap]
rs4576	0.94[JPT][hapmap]
rs4630309	0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv518919	chr11:66409409-66468469	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv897791	chr11:66442855-66533469	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv427891	chr11:66456140-66606701	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
7	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
8	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66446200-66468600	Weak transcription	Right Ventricle	heart
2	chr11:66446200-66480200	Weak transcription	Fetal Kidney	kidney
3	chr11:66446200-66485800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:66452200-66485600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:66452800-66473800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:66453000-66483400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:66456400-66494600	Weak transcription	Right Atrium	heart
8	chr11:66458600-66469200	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr11:66459000-66472200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:66462600-66484000	Weak transcription	Brain Substantia Nigra	brain
11	chr11:66462800-66472200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:66462800-66481000	Weak transcription	HMEC	breast
13	chr11:66462800-66484400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:66463000-66469600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:66463000-66472000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:66463000-66485000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:66463200-66470200	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr11:66463400-66469400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:66463400-66470200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:66463400-66471800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:66463600-66468800	Strong transcription	Brain Cingulate Gyrus	brain
22	chr11:66463600-66469400	Strong transcription	Pancreas	Pancrea
23	chr11:66463600-66469600	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr11:66463600-66469800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:66463600-66470000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:66463600-66470000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:66463800-66469600	Strong transcription	Brain Angular Gyrus	brain
28	chr11:66464000-66468800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:66464400-66469600	Strong transcription	Brain Anterior Caudate	brain
30	chr11:66465000-66469600	Strong transcription	NHEK	skin
31	chr11:66465000-66470200	Strong transcription	Hela-S3	cervix
32	chr11:66465200-66469200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:66465200-66469400	Strong transcription	Brain Hippocampus Middle	brain
34	chr11:66465400-66471800	Weak transcription	Thymus	Thymus
35	chr11:66465600-66487000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:66465800-66469600	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr11:66465800-66469600	Strong transcription	A549	lung
38	chr11:66465800-66480200	Weak transcription	Fetal Brain Male	brain
39	chr11:66466400-66469200	Strong transcription	Esophagus	oesophagus
40	chr11:66466600-66468600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
41	chr11:66467000-66468800	ZNF genes & repeats	Brain Germinal Matrix	brain
42	chr11:66467000-66468800	ZNF genes & repeats	Fetal Brain Female	brain
43	chr11:66467000-66469400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:66467200-66468600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:66467200-66480200	Weak transcription	Ovary	ovary
46	chr11:66467400-66469200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:66467400-66485200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr11:66467600-66470200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:66467800-66468600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:66467800-66468800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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